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Biochemistry | Medicine (MD/DO) School Study Aid


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Other Metabolic Disorders
12 Picmonics to Learn | 24 mins
Refsum Disease
Pathophysiology
Autosomal Recessive
Peroxisome Dysfunction
Increased Phytanic Acid
Clinical Features
Retinitis Pigmentosa
Hearing Loss
Polyneuropathy
Anosmia
Ataxia
Diagnosis
Genetic Testing
Management
Dietary Changes
Plasmapheresis
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3 mins
Essential Fructosuria
Autosomal Recessive
Defect in fructokinase
Fructose to fructose 1-P
Benign
Fructose appears in blood and urine
Fructose does not enter cells
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53 secs
Fructose Intolerance
Pathophysiology
Deficiency of Aldolase B
Fructose 1-P To DHAP And GA
Accumulation Of Fructose-1-Phosphate
Inhibition Of Glycogenolysis
Inhibition Of Gluconeogenesis
Clinical Features
Hypoglycemia
Vomiting
Jaundice
Cirrhosis
Autosomal Recessive
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2 mins
Classic Galactosemia
Pathophysiology
Autosomal Recessive
Galactose-1-phosphate uridyltransferase is Absent (GALT)
Impaired Galactose-1-P to UDP-Galactose
Galactitol Accumulation in Lens
Signs and Symptoms
Infantile Cataracts
Failure to Thrive
Hepatomegaly
Jaundice
Intellectual Disability (Mental retardation)
Increased Risk E. Coli Sepsis
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2 mins
Galactokinase Deficiency
Autosomal Recessive
Galactose to galactose 1P
Galactose appears in blood and urine
Benign
Infantile Cataracts
Failure to develop a social smile
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2 mins
Pyruvate Dehydrogenase Deficiency
Characteristics
Acquired from Thiamine Deficiency
Backup of Alanine and Pyruvate
Symptoms and Complications
Neurologic Defects
Lactic Acidosis
Interventions
Ketogenic Nutrients
Lysine and Leucine (Ketogenic Nutrients)
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56 secs
Ornithine Transcarbamylase Deficiency
Pathophysiology
Most Common Urea Cycle Disorder
X-Linked Recessive
Signs and Symptoms
Hyperammonemia
Decreased BUN
Carbamoyl Phosphate is Converted to Orotic Acid
Pyrimidine Synthesis Pathway
Evident in Babies
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3 mins
Orotic Aciduria
Pathophysiology
Autosomal Recessive
Defect in UMP Synthase
De Novo Pyrimidine Synthesis Pathway
Symptoms
Increased Orotic Acid in Urine
Megaloblastic Anemia
No Response to B12 or Folate
Non-Hyperammonemic
Failure to Thrive
Treatment
Oral Uridine Monophosphate
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2 mins
Hyperammonemia
Pathophysiology
Hereditary Urea Cycle Defects
Acquired Through Liver Disease
Inhibits the Citric Acid Cycle
Signs & Symptoms
Somnolence
Slurring of Speech
Tremor
Cerebral Edema
Vomiting
Blurring of Vision
Treatment
Limit Protein in Diet
Lactulose
Benzoate Binds Amino Acid for Excretion
Phenylbutyrate
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4 mins
G6PD Deficiency
X-linked Recessive
Hemolytic Anemia
Inflammatory Response
Fava Beans
Sulfonamides
Primaquine
Anti TB Drugs
Heinz Bodies
Bite Cells
Prevalent Among African Americans due to Increased Malarial Resistance
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2 mins
Adenosine Deaminase Deficiency
Adenosine to Inosine
Excess ATP
Inhibition of Ribonucleotide Reductase
Prevents DNA Synthesis
Decreases B Cells and T Cells
Major cause of SCID
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1 min
Lesch-Nyhan Syndrome
X-linked Recessive
Absence of HGPRT
Hypoxanthine to IMP
Guanine to GMP
Excess uric acid
Gout
Retardation
Self-mutilation
Choreoathetosis
PRPP is increased
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2 mins

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